Linked Data
ClinVar Variation Id:
345683
dbSNP Id:
rs181413143
ExAC:
3:47047500 G / A
gnomAD v2:
3-47047500-G-A
gnomAD v3:
3-47006010-G-A
gnomAD v4:
3-47006010-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47006010G>A , CM000665.2:g.47006010G>A | GRCh38 |
| NC_000003.11:g.47047500G>A , CM000665.1:g.47047500G>A | GRCh37 |
| NC_000003.10:g.47022504G>A | NCBI36 |
| NG_031914.1:g.31328G>A , LRG_568:g.31328G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450053.8:c.6866G>A MANE Select | ENSP00000415034.2:p.Arg2289Gln | |
| ENST00000651350.1:n.126G>A | ||
| ENST00000651453.1:n.867G>A | ||
| ENST00000651747.1:c.6764G>A | ENSP00000499216.1:p.Arg2255Gln | |
| ENST00000416683.5:c.4729G>A | ||
| ENST00000423436.1:c.347G>A | ENSP00000415063.1:p.Arg116Gln | |
| ENST00000443829.5:c.1971G>A | ||
| ENST00000450053.7:c.6866G>A | ENSP00000415034.2:p.Arg2289Gln | |
| ENST00000486870.1:n.925G>A | ||
| NM_015175.2:c.6866G>A , LRG_568t1:c.6866G>A | NP_055990.1:p.Arg2289Gln | |
| XM_005264992.2:c.6764G>A | XP_005265049.1:p.Arg2255Gln | |
| XM_005264993.2:c.3338G>A | XP_005265050.1:p.Arg1113Gln | |
| XM_006713072.2:c.6785G>A | XP_006713135.1:p.Arg2262Gln | |
| XM_011533532.1:c.6845G>A | XP_011531834.1:p.Arg2282Gln | |
| XM_011533533.1:c.6866G>A | XP_011531835.1:p.Arg2289Gln | |
| XM_011533534.1:c.6497G>A | XP_011531836.1:p.Arg2166Gln | |
| XM_011533535.1:c.6326G>A | XP_011531837.1:p.Arg2109Gln | |
| XM_011533536.1:c.6212G>A | XP_011531838.1:p.Arg2071Gln | |
| XM_011533537.1:c.5774G>A | XP_011531839.1:p.Arg1925Gln | |
| XR_940397.1:n.7042G>A | ||
| NM_001365116.1:c.6764G>A | NP_001352045.1:p.Arg2255Gln | |
| XM_006713072.3:c.6785G>A | XP_006713135.1:p.Arg2262Gln | |
| XM_011533533.2:c.6866G>A | XP_011531835.1:p.Arg2289Gln | |
| XM_017006010.1:c.6866G>A | XP_016861499.1:p.Arg2289Gln | |
| XM_017006011.1:c.6845G>A | XP_016861500.1:p.Arg2282Gln | |
| XM_017006012.1:c.6785G>A | XP_016861501.1:p.Arg2262Gln | |
| XM_017006013.1:c.6866G>A | XP_016861502.1:p.Arg2289Gln | |
| XM_017006014.1:c.6764G>A | XP_016861503.1:p.Arg2255Gln | |
| XM_017006015.1:c.6497G>A | XP_016861504.1:p.Arg2166Gln | |
| XM_017006016.1:c.6326G>A | XP_016861505.1:p.Arg2109Gln | |
| XM_017006017.1:c.3338G>A | XP_016861506.1:p.Arg1113Gln | |
| XR_940397.2:n.7042G>A | ||
| NM_001365116.2:c.6764G>A | NP_001352045.1:p.Arg2255Gln | |
| NM_015175.3:c.6866G>A MANE Select | NP_055990.1:p.Arg2289Gln |